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Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.
De Roeck, Arne; Van den Bossche, Tobi; van der Zee, Julie; Verheijen, Jan; De Coster, Wouter; Van Dongen, Jasper; Dillen, Lubina; Baradaran-Heravi, Yalda; Heeman, Bavo; Sanchez-Valle, Raquel; Lladó, Albert; Nacmias, Benedetta; Sorbi, Sandro; Gelpi, Ellen; Grau-Rivera, Oriol; Gómez-Tortosa, Estrella; Pastor, Pau; Ortega-Cubero, Sara; Pastor, Maria A; Graff, Caroline; Thonberg, Håkan; Benussi, Luisa; Ghidoni, Roberta; Binetti, Giuliano; de Mendonça, Alexandre; Martins, Madalena; Borroni, Barbara; Padovani, Alessandro; Almeida, Maria Rosário; Santana, Isabel; Diehl-Schmid, Janine; Alexopoulos, Panagiotis; Clarimon, Jordi; Lleó, Alberto; Fortea, Juan; Tsolaki, Magda; Koutroumani, Maria; Matej, Radoslav; Rohan, Zdenek; De Deyn, Peter; Engelborghs, Sebastiaan; Cras, Patrick; Van Broeckhoven, Christine; Sleegers, Kristel.
Afiliação
  • De Roeck A; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
  • Van den Bossche T; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • van der Zee J; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
  • Verheijen J; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • De Coster W; Department of Neurology, Antwerp University Hospital, Edegem, Belgium.
  • Van Dongen J; Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken, Antwerp, Belgium.
  • Dillen L; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
  • Baradaran-Heravi Y; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Heeman B; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
  • Sanchez-Valle R; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Lladó A; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
  • Nacmias B; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Sorbi S; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
  • Gelpi E; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Grau-Rivera O; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
  • Gómez-Tortosa E; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Pastor P; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
  • Ortega-Cubero S; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Pastor MA; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
  • Graff C; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Thonberg H; Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
  • Benussi L; Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
  • Ghidoni R; Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.
  • Binetti G; Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.
  • de Mendonça A; IRCCS Don Gnocchi, Florence, Italy.
  • Martins M; Neurological Tissue Bank of the Biobanc, Hospital Clinic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
  • Borroni B; Neurological Tissue Bank of the Biobanc, Hospital Clinic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
  • Padovani A; Department of Neurology, Fundación Jiménez Díaz, Madrid, Spain.
  • Almeida MR; Memory Unit, Department of Neurology, University Hospital Mútua de Terrassa, University of Barcelona School of Medicine, Terrassa, Barcelona, Spain.
  • Santana I; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain.
  • Diehl-Schmid J; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain.
  • Alexopoulos P; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain.
  • Clarimon J; Neuroimaging Laboratory, Division of Neurosciences, Center for Applied Medical Research (CIMA), University of Navarra, Pamplona, Spain.
  • Lleó A; Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine, Pamplona, Spain.
  • Fortea J; Department of Neurobiology, Care Sciences and Society (NVS), Division of Neurogeriatrics, Center for Alzheimer Research, Karolinska Institutet, Huddinge, Stockholm, Sweden.
  • Tsolaki M; Genetics Unit, Department of Geriatric Medicine, Karolinska University Hospital, Stockholm, Sweden.
  • Koutroumani M; Department of Neurobiology, Care Sciences and Society (NVS), Division of Neurogeriatrics, Center for Alzheimer Research, Karolinska Institutet, Huddinge, Stockholm, Sweden.
  • Matej R; Genetics Unit, Department of Geriatric Medicine, Karolinska University Hospital, Stockholm, Sweden.
  • Rohan Z; Molecular Markers Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy.
  • De Deyn P; Molecular Markers Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy.
  • Engelborghs S; Molecular Markers Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy.
  • Cras P; MAC Memory Center, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy.
  • Van Broeckhoven C; Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
  • Sleegers K; Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
Acta Neuropathol ; 134(3): 475-487, 2017 Sep.
Article em En | MEDLINE | ID: mdl-28447221
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transportadores de Cassetes de Ligação de ATP / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Doença de Alzheimer / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Acta Neuropathol Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Bélgica
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transportadores de Cassetes de Ligação de ATP / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Doença de Alzheimer / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Acta Neuropathol Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Bélgica